The study demonstrates in vivo detection of methylmalonic acid and lactate signals in MMA patients, indicating metabolic insights.
Motivation: Methylmalonic acidemia is an extremely harmful organic acidemia causing multi-system damage mainly in the central nervous system. Goal(s): To selectively probe the 1H MR signals of methylmalonic acid and lactate (Lac) in vivo in the brain of methylmalonic acidemia (MMA) patients. Approach: The optimal J-editing 1H MRS approach was used to probe the MMA and Lac signals in vivo. Results: The methylmalonic acid and lactate 1H MR signals were selectively probed in a phantom and 8 MMA patients, confirming their correlation with urine and blood concentration levels. Impact: We successfully detected methylmalonic acid and Lac signals in MMA patients, providing crucial support for exploring MMA metabolic pathways in vivo.
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Zhuo et al. (2025) studied this question.
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